Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Fertil Steril. 2004 Oct;82(4):923-5.

A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

Author information

  • 1Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.

Abstract

OBJECTIVE:

To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome.

DESIGN:

Patient report.

SETTING:

Outpatient clinic of a university hospital.

PATIENT(S):

A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype.

INTERVENTION(S):

None.

MAIN OUTCOME MEASURE(S):

Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis.

RESULT(S):

The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. Karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint.

CONCLUSION(S):

This is a rare case of pregnancy in a nonmosaic Turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.

PMID:
15482770
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk